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Pericentric chromosome 8 inversion associated with the 5′RUNX1/3′CBFA2T1 gene in acute myeloid leukemia cases

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Abstract

In the present paper we report pericentric chromosome 8 inversions in two (2.4%) of 82 acute myeloid leukemia (AML) cases characterized by the 5′RUNX1/3′CBFA2T1 fusion gene. Molecular cytogenetic characterization was achieved using appropriate bacterial artificial chromosome (BAC) and P1 artificial chromosome (PAC) probes in fluorescence in situ hybridization (FISH) experiments. In these two cases the fusion gene was detected on the der(8) short arm, resulting from a pericentric chromosome 8 inversion followed by a t(8;21) rearrangement. These results suggest that heterogeneous mechanisms can lead to the generation of the 5′RUNX1/3′CBFA2T1chimeric gene.

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Acknowledgments

The authors thank Ms. MVC Pragnell, B.A. for language revision of the manuscript. The financial support of AIL-BARI, AIRC, and MIUR is gratefully acknowledged.

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Authors and Affiliations

  1. Department of Hematology, University of Foggia, Viale Pinto 1, 71100, Foggia, Italy

    L. Anelli, A. Zagaria, A. Liso & G. Specchia

  2. Sezione di Genetica, DAPEG, University of Bari, Bari, Italy

    L. Anelli, A. Zagaria & M. Rocchi

  3. Department of Hematology, University of Bari, Bari, Italy

    F. Albano, V. Liso & G. Specchia

  4. Section of Hematology, Department of Biomedical Sciences, University of Ferrara, Ferrara, Italy

    A. Cuneo

  5. Dipartimento di Biotecnologie Cellulari ed Ematologia, University La Sapienza, Rome, Italy

    M. Mancini

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  1. L. Anelli
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  2. F. Albano
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  3. A. Zagaria
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  4. A. Liso
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  5. A. Cuneo
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  6. M. Mancini
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  7. V. Liso
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  8. M. Rocchi
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  9. G. Specchia
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Correspondence to G. Specchia.

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Anelli, L., Albano, F., Zagaria, A. et al. Pericentric chromosome 8 inversion associated with the 5′RUNX1/3′CBFA2T1 gene in acute myeloid leukemia cases. Ann Hematol 84, 245–249 (2005). https://doi.org/10.1007/s00277-004-0960-x

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  • DOI: https://doi.org/10.1007/s00277-004-0960-x

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